A study utilizing the research resources of BioBank Japan (BBJ) has been published in the  international scientific journal Nature Medicine.

A joint research team led by Assistant Professor Go Sato and Professor Yukinori Okada of the Graduate School of Medicine at the University of Tokyo focused on germline and somatic variations on the Y chromosome and conducted a comprehensive cross-sectional analysis of 122,683 men from BBJ and 181,472 men from the UK Biobank to investigate their associations with various diseases. Specifically, they examined germline variants defining Y-chromosome haplogroups and somatic loss of the Y chromosome (LOY), an age-related mosaic event.

They found that LOY increases the risk of type 2 diabetes (T2D) in Japanese men, particularly among those with lower polygenic risk scores, whereas it was associated with a reduced risk of T2D in European men. Additionally, they discovered that Y-chromosome haplogroup D—a genetic lineage prevalent in the Japanese population—was associated with a reduced risk of T2D.

Fplease refer to the original paper for more details about the study.

Original paper

Genetic regulation across germline and somatic variation on the Y chromosome contributes to type 2 diabetes